NA02340
DNA from Fibroblast
Description:
SICKLE CELL ANEMIA
HEMOGLOBIN--BETA LOCUS; HBB
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Mutations of the Hemoglobin Loci |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
14 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
HBB |
| Chromosomal Location |
11p15.5 |
| Allelic Variant 1 |
141900.0243; HEMOGLOBIN S |
| Identified Mutation |
GLU6VAL; The mutation in codon 6 of HBB in Hb S is GAG (GLU) to GTG (VAL). |
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| Gene |
HBB |
| Chromosomal Location |
11p15.5 |
| Allelic Variant 2 |
141900.0243; HEMOGLOBIN S |
| Identified Mutation |
GLU6VAL; The mutation in codon 6 of HBB in Hb S is GAG (GLU) to GTG (VAL). |
| Remarks |
Sickle cell disease |
| Park TS, Huo JS, Peters A, Talbot CC, Verma K, Zimmerlin L, Kaplan IM, Zambidis ET, Growth factor-activated stem cell circuits and stromal signals cooperatively accelerate non-integrated iPSC reprogramming of human myeloid progenitors PloS one7:e42838 2012 |
| PubMed ID: 22905176 |
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| Mali P, Ye Z, Hommond HH, Yu X, Lin J, Chen G, Zou J, Cheng L, Improved Efficiency and Pace of Generating Induced Pluripotent Stem Cells from Human Adult and Fetal Fibroblasts Stem cells (Dayton, Ohio)7:e42838 2008 |
| PubMed ID: 18511599 |
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